Canonical Allele Identifier: PA2826215517
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440670
ClinVar RCV Id: RCV000508814 RCV002282192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser480Phe
CA404093077
NM_001195800.2:c.1439C>T